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List of works by Elza Khusnutdinova

11q13 is a susceptibility locus for hormone receptor positive breast cancer

scientific article

9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium

scientific article published on 02 August 2012

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

scientific article

A Splice Site Variant of CDK12 and Breast Cancer in Three Eurasian Populations.

scientific article published on 14 June 2019

A counter-clockwise northern route of the Y-chromosome haplogroup N from Southeast Asia towards Europe

scientific article

A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe

scientific article

A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease

scientific article

A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer

article

A rare event of insertion polymorphism of a HERV-K LTR in the human genome

scientific article

A recent bottleneck of Y chromosome diversity coincides with a global change in culture

scientific article

A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

scientific article published on 18 June 2018

ALU Insertion Polymorphisms in Populations of the South Caucasus

Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

scientific article

Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia

scientific article

An STR database on the Volga-Ural population

scientific article published on 23 December 2008

Analysis of CCR5Delta32 geographic distribution and its correlation with some climatic and geographic factors

scientific article published in January 2002

Analysis of COL1A1 and COL1A2 genes in osteogenesis imperfecta patients from Russia

article

Analysis of genetic variants of class II cytokine and their receptor genes in psoriasis patients of two ethnic groups from the Volga-Ural region of Russia

scientific article published on 16 July 2012

Ancient human genomes suggest three ancestral populations for present-day Europeans

scientific article

Ancient human genomes suggest three ancestral populations for present-day Europeans

Assessment of an APOBEC3B truncating mutation, c.783delG, in patients with breast cancer

scientific article published on 6 January 2017

Assessment of gene-by-sex interaction effect on bone mineral density

scientific article (publication date: October 2012)

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association of Kallikrein Gene Polymorphisms With Intracranial Aneurysms

article

Associations between Vitamin D-Binding Protein (DBP) Gene Polymorphism (TAAA)n and Development of Osteoporosis in the Volga-Ural Region of Russia

scientific article published on 24 June 2014

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

scientific article published on 18 August 2011

Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis

article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology

Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia ⬇️

scientific article

Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect

scientific article

Beringian standstill and spread of Native American founders

scientific article published in 2007

Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia)

scientific article

Brain derived neurotrophic factor gene (BDNF) and personality traits: the modifying effect of season of birth and sex.

scientific article published on 15 August 2014

Brain neurotransmitter systems gene Polymorphism: the Search for pharmacogenetic markers of efficacy of haloperidol in Russians and Tatars

scientific article published on November 2015

Branched-Chain Amino Acid Database Integrated in MEDIPAD Software as a Tool for Nutritional Investigation of Mediterranean Populations

scientific article published on 01 October 2018

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

scientific article published on 28 September 2020

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

scientific article

Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia.

scientific article

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article

Complete mitochondrial DNA analysis of eastern Eurasian haplogroups rarely found in populations of northern Asia and eastern Europe

scientific article published in 2012

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer

scientific article

Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics

scientific article published on 16 February 2017

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article published in PLoS ONE

Cross-cancer genome-wide association study of endometrial cancer and epithelial ovarian cancer identifies genetic risk regions associated with risk of both cancers

scientific article published on 03 November 2020

Decreased rate of evolution in Y chromosome STR loci of increased size of the repeat unit

scientific article

Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third

scientific article published on 07 July 2020

Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus

scientific article

Distribution of the alcohol dehydrogenase ADH1B*47His allele in Eurasia

scientific article

Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia

scientific article

Diversity of Y-chromosomal and mtDNA Markers Included in Mediscope Chip within Two Albanian Subpopulations from Croatia and Kosovo: Preliminary Data

scientific article published in September 2016

East Eurasian ancestry in the middle of Europe: genetic footprints of Steppe nomads in the genomes of Belarusian Lipka Tatars

scientific article

Ethnic differences in the serotonin transporter polymorphism (5-HTTLPR) in several European populations

scientific article

Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes

article

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

scientific article published on 07 January 2020

Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation

article

From East to West: patterns of genetic diversity of populations living in four Eurasian regions.

scientific article published on 7 February 2006

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

scientific article published in July 2021

Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder

scientific article

Genetic Heritage of the Balto-Slavic Speaking Populations: A Synthesis of Autosomal, Mitochondrial and Y-Chromosomal Data

scientific article

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

scientific article published on 06 October 2016

Genetic structure of Dagestan populations: a study of 11 Alu insertion polymorphisms.

scientific article

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

scientific article published in September 2016

Genome-wide analysis implicates microRNAs and their target genes in the development of bipolar disorder

scientific article

Genome-wide association analysis identifies three new breast cancer susceptibility loci

scientific article published on 22 January 2012

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

scientific article published on 18 May 2020

Genome-wide association study of germline variants and breast cancer-specific mortality

scientific article published on 21 February 2019

Genome-wide association study reveals two new risk loci for bipolar disorder

scientific article (publication date: 11 March 2014)

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

scientific article

Genomic analyses inform on migration events during the peopling of Eurasia

scientific article (publication date: 13 October 2016)

Genomic evidence for the Pleistocene and recent population history of Native Americans

scientific article

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

scientific article published on 16 June 2020

Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

scientific article published on 5 October 2021

Global diversity, population stratification, and selection of human copy-number variation

scientific article

Human Y Chromosome Haplogroup N: A Non-trivial Time-Resolved Phylogeography that Cuts across Language Families

scientific article

Identification of a new locus at 16q12 associated with time to asthma onset

scientific article

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

scientific article

Identification of shared risk loci and pathways for bipolar disorder and schizophrenia

scientific article

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

scientific article published on 23 October 2017

M06 Epidemiology of Huntington's disease in the Republic of Bashkortostan

scholarly article by R Magzhanov et al published 29 August 2012 in Journal of Neurology, Neurosurgery and Psychiatry

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

scientific article published on 8 April 2022

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

scientific article published in October 2021

Mitochondrial DNA variation of modern Tuscans supports the near eastern origin of Etruscans

scientific article

Mitochondrial DNA variations in Russian and Belorussian populations

scientific article (publication date: October 2003)

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

scientific article published on 22 December 2017

Mutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer

scientific article published on 21 January 2014

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

scientific article published on 29 March 2009

Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations

scientific article

Novel MicroRNA Binding Site SNPs and the Risk of Clear Cell Renal Cell Carcinoma (ccRCC): A Case-Control Study

scientific article published on 20 November 2020

Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans

scientific article published on 10 May 2011

Origin and diffusion of mtDNA haplogroup X

scientific article

Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective.

scientific article

Origin and spread of human mitochondrial DNA haplogroup U7.

scientific article published on 07 April 2017

P.1.07 Methylenetetrahydrofolate reductase gene and unipolar depression: focus on personality traits

article

P.1.a.003 The serotonin transporter gene: association with different psychiatric disorders

article

P.1.a.018 The influence of 5-HTT, DRD2, DAT1 and NET genes on personality traits is modified by gene – environment interaction

article

P.1.a.020 DRD4 gene polymorphisms and their influence on personality traits

article

P.2.b.001 Contribution of some serotonergic system genes to suicidal behaviour in Russian population: gender specific association

article

Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in europe

scientific article

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

scientific article

Polymorphism of MET and D7S23 Loci Linked to the Cystic Fibrosis Gene in Bashkir and Komi Populations

article

Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations

scientific article published on 01 November 2001

Polymorphisms at locus D1S80 and other hypervariable regions in the analysis of Eastern European ethnic group relationships

article

Prediction of breast cancer risk based on profiling with common genetic variants

scientific article published on 8 April 2015

Prevalence of PALB2 mutation c.509_510delGA in unselected breast cancer patients from Central and Eastern Europe

scientific article published in June 2014

Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe

scientific article published in March 2015

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region

scientific article published on 6 February 2012

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

scientific article published on 30 June 2009

Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a

scientific article

Separating the post-Glacial coancestry of European and Asian Y chromosomes within haplogroup R1a.

scientific article published on 19 August 2010

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

Shifts in the Genetic Landscape of the Western Eurasian Steppe Associated with the Beginning and End of the Scythian Dominance

scientific article published on 11 July 2019

Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)

scientific article

Stereoselective synthesis of 11-phenylundeca-5Z,9Z-dienoic acid and investigation of its human topoisomerase I and IIα inhibitory activity

scientific article published on 10 April 2015

Structural Variability, Expression Profile, and Pharmacogenetic Properties of TMPRSS2 Gene as a Potential Target for COVID-19 Therapy

scientific article published on 25 December 2020

Synthesis and cytotoxicity of allobetulin derivatives

scientific article published on 01 September 2014

The Caucasus as an asymmetric semipermeable barrier to ancient human migrations

scientific article (publication date: 2012)

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The Genetic Legacy of the Expansion of Turkic-Speaking Nomads Across Eurasia

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

scientific article

The facile synthesis of the 5Z,9Z-dienoic acids and their topoisomerase I inhibitory activity.

scientific article published in September 2013

The genetic legacy of the expansion of Turkic-speaking nomads across Eurasia

scientific article published on 21 April 2015

The genetic prehistory of the New World Arctic

scientific article

The genome-wide structure of the Jewish people

scientific article

The phylogenetic and geographic structure of Y-chromosome haplogroup R1a

scientific article

The role of dopamine transporter (SLC6A3) and dopamine D2 receptor/ankyrin repeat and kinase domain containing 1 (DRD2/ANKK1) gene polymorphisms in personality traits

scientific article published on 24 February 2011

The role of inflammatory chemokines in lymphoid neoorganogenesis in breast cancer

scientific article published on 3 April 2013

The serotonin transporter gene: polymorphism and haplotype analysis in Russian suicide attempters

scientific article published on 5 October 2006

The study of filaggrin gene mutations and copy number variation in atopic dermatitis patients from Volga-Ural region of Russia

scientific article published on 27 June 2016

The western and eastern roots of the Saami--the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes

scientific article

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

scientific article published on 01 March 2020

Two truncating variants in FANCC and breast cancer risk

scientific article published on 29 August 2019

Upper Palaeolithic Siberian genome reveals dual ancestry of Native Americans

scientific article

Use of DNA fingerprinting for human population genetic studies

scientific article published on 01 May 1995

X-chromosome as a marker for population history: linkage disequilibrium and haplotype study in Eurasian populations

scientific article

Y-chromosomal analysis of clan structure of Kalmyks, the only European Mongol people, and their relationship to Oirat-Mongols of Inner Asia

article

Y-chromosomal connection between Hungarians and geographically distant populations of the Ural Mountain region and West Siberia

scientific article published on 24 May 2019

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